Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.V91insFs
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CLN6

NM_017882.3:p.V91insFs

Associated Papers

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

Di Fruscio G et al.

Autophagy, 2015

The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland.

Moore SJ et al.

Clinical Genetics, 2008

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.

Sharp JD et al.

Human Mutation, 2003

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.

Teixeira CA et al.

Human Mutation, 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."